Antenatal diagnosis of Seckel Syndrome: a rare case report.

INTRODUCTION

Seckel Syndrome is a rare autosomal recessive disorder characterized by dwarfism, microcephaly and the absence of visceral malformations.

CASE REPORT: we observed sonographic features of a Seckel Syndrome, in a patient during the 24th week of pregnancy. Her family history was negative for malformation and chromosomal disorders. The diagnosis was later confirmed by molecular tests.

CONCLUSION

diagnosis should be made only by expert operators. Karyotype analysis is essential to confirm the diagnosis.